In other species: crab-eating macaque , Rhesus monkey , pig , Chinese hamster , golden hamster

Categories: Endocrine / exocrine gland phene (incl mammary gland)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 125853 (trait) , 147940 (gene) , 137241 (gene) , 600797 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0005148: type 2 diabetes mellitus

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Disease-related: yes

Key variant known: no

Inheritance: O'Leary et al. (2013): "In this pilot study the increased inbreeding in the cases, lack of likely sampling bias, the increased frequency of T2D in Burmese, and small number of breed founders are consistent with the involvement of a major locus in diabetes in Burmese cats with a significant risk allele prevalence. However, low case numbers meant this could not be unambiguously confirmed. A genome-wide association study may be useful for investigating the genetic cause of T2D."

Mapping: Samaha et al. (2020): "We used the feline SNV array and whole genome sequence data to undertake a genome wide-association study and runs of homozygosity analysis, of a case-control cohort of Australian and European Burmese cats. Our results identified diabetes-associated haplotypes across chromosomes A3, B1 and E1 and selective sweeps across the Burmese breed on chromosomes B1, B3, D1 and D4." Balmer et al. (2020) conducted "a genome-wide association scan on ABB [Australian-bred Burmese] cats. Four SNPs were associated with the ABB T2D phenotype with p values <0.005. ... These SNPs tagged regions on cat chromosomes A3, C1 and C2. ... All exons and splice junctions of candidate genes near significant single-nucleotide polymorphisms (SNPs) were sequenced, including the genes DGKG, IFG2BP2, SLC8A1, E2F6, ETV5, TRA2B and LIPH. Six candidate polymorphisms were followed up in a larger cohort of ABB cats with or without T2D and also in Burmese cats bred in America, which exhibit low T2D incidence. The original SNPs were confirmed in this cohort as associated with the T2D phenotype, although no novel coding SNPs in any of the seven candidate genes showed association with T2D."

Markers: Forcada et al. (2013) investigated the comparative and functional candidate gene MC4R in domestic shorthair cats. The authors identified a MC4R:c.92C>T variant in the gene and investigated an association with diabetes mellitus and overweight body condition score: "No significant differences in MC4R:c.92C>T allele or genotype frequencies were identified between nondiabetic overweight and lean cats." The association with the variant and overweight diabetic cats was significant (see OMIA:000284-9685 : Diabetes mellitus, type II in Felis catus).